ABSTRACT
The rapidly expanding field of human genetics has uncovered a number of genes that, when mutated, lead to hereditary hearing impairment. Over 60 genes have been localized and more than 20 genes identified that are implicated in hereditary hearing impairment (1). Autosomal dominant inherited deafness genes are referred to as DFNA and autosomal recessive inherited deafness genes as DFNB. In 1997, the thirteenth locus for autosomal dominant nonsyndromic hearing loss was reported (2). We review the discovery of novel mutations in a collagen gene (COL11A2) that cause dominantly inherited, prelingual, nonsyndromic sensorineural hearing loss (DFNA13).
